A child of consanguineous parents has midface hypoplasia, brachytelephalangy, peripheral pulmonary-artery stenosis and extensive calcification of auri...

Question

A child of consanguineous parents has midface hypoplasia, brachytelephalangy, peripheral pulmonary-artery stenosis and extensive calcification of auricular and tracheobronchial cartilage. Calcium and phosphate are normal. Which molecular defect best fits?

Accepted Answer

Biallelic loss-of-function MGP variants

Answer

Biallelic loss-of-function ABCC6 variants

Answer

Heterozygous activating IFIH1 variants

Answer

Biallelic loss-of-function ENPP1 variants

Answer

Heterozygous activating ACVR1 variants

ASCVD — MRCP Part 1 MCQ

A child of consanguineous parents has midface hypoplasia, brachytelephalangy, peripheral pulmonary-artery stenosis and extensive calcification of auricular and tracheobronchial cartilage. Calcium and phosphate are normal. Which molecular defect best fits?